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Christalena Sofocleous
47  results:
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1

Myotonia congenita in a Greek cohort: Genotype spectrum and..:

Marinakis, Nikolaos M. ; Svingou, Maria ; Papadimas, Giorgos‐Konstantinos...
Muscle & Nerve.  70 (2024)  2 - p. 240-247 , 2024
Link: https://doi.org/10.1002/..
 
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2

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report..:

Veltra, Danai ; Theodorou, Virginia ; Katsalouli, Marina...
International Journal of Molecular Sciences.  25 (2024)  11 - p. 5644 , 2024
Link: https://doi.org/10.3390/..
 
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3

Impact of α-Globin Gene Expression and α-Globin Modifiers o..:

Traeger-Synodinos, Joanne ; Vrettou, Christina ; Sofocleous, Christalena...
International Journal of Molecular Sciences.  25 (2024)  6 - p. 3400 , 2024
Link: https://doi.org/10.3390/..
 
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4

Lethal Complications and Complex Genotypes in Shwachman Dia..:

Veltra, Danai ; Marinakis, Nikolaos M. ; Kotsios, Ioannis...
Children.  11 (2024)  6 - p. 705 , 2024
Link: https://doi.org/10.3390/..
 
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5

The Diverse Genomic Landscape of Diamond–Blackfan Anemia: T..:

Pelagiadis, Iordanis ; Kyriakidis, Ioannis ; Katzilakis, Nikolaos...
Children.  10 (2023)  11 - p. 1812 , 2023
Link: https://doi.org/10.3390/..
 
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6

Germline CNV Detection through Whole-Exome Sequencing (WES)..:

Tilemis, Faidon-Nikolaos ; Marinakis, Nikolaos M. ; Veltra, Danai...
Genes.  14 (2023)  7 - p. 1490 , 2023
Link: https://doi.org/10.3390/..
 
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7

P798: DIAMOND BLACKFAN ANEMIA MAY ESCAPE DIAGNOSIS UP TO AD..:

Delaporta, Polyxeni ; Sofocleous, Christalena ; Glentis, Stavros...
HemaSphere.  7 (2023)  S3 - p. e034222c , 2023
Link: https://doi.org/10.1097/..
 
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8

A Greek National Cross-Sectional Study on Myotonic Dystroph..:

Papadimas, Georgios K. ; Papadopoulos, Constantinos ; Kekou, Kyriaki...
International Journal of Molecular Sciences.  23 (2022)  24 - p. 15507 , 2022
Link: https://doi.org/10.3390/..
 
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9

Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele..:

Kattamis, Christos ; Skafida, Myrto ; Delaporta, Polyxeni...
Biology.  11 (2022)  3 - p. 432 , 2022
Link: https://doi.org/10.3390/..
 
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10

A novel pathogenic ATP6V1B2 variant: Widening the genotypic..:

Veltra, Danai ; Kosma, Konstantina ; Papavasiliou, Antigoni...
American Journal of Medical Genetics Part A.  188 (2022)  12 - p. 3563-3566 , 2022
Link: https://doi.org/10.1002/..
 
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11

CAPRIN1 haploinsufficiency causes a neurodevelopmental diso..:

Pavinato, Lisa ; Delle Vedove, Andrea ; Carli, Diana...
Brain.  146 (2022)  2 - p. 534-548 , 2022
Link: https://doi.org/10.1093/..
 
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12

Phenotype‐driven variant filtration strategy in exome seque..:

Marinakis, Nikolaos M. ; Svingou, Maria ; Veltra, Danai...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2561-2571 , 2021
Link: https://doi.org/10.1002/..
 
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13

Evaluation of Genotypes and Epidemiology of Spinal Muscular..:

Kekou, Kyriaki ; Svingou, Maria ; Sofocleous, Christalena...
Journal of Neuromuscular Diseases.  7 (2020)  3 - p. 247-256 , 2020
Link: https://doi.org/10.3233/..
 
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14

Does splenectomy influence the development of Hypothyroidis..:

KATTAMIS, Christos ; Skafida, Myrto ; Sofocleous, Christalena.
Mediterranean Journal of Hematology and Infectious Diseases.  11 (2019)  1 - p. e2019064 , 2019
Link: https://doi.org/10.4084/..
 
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15

The Greek Registry of Shwachman Diamond‐Syndrome: Molecular..:

Delaporta, Polyxeni ; Sofocleous, Christalena ; Economou, Marina...
Pediatric Blood & Cancer.  64 (2017)  11 - p. , 2017
Link: https://doi.org/10.1002/..
 
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